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CFHR5 Nephropathy
Complement factor H-related protein 5 (CFHR5) nephropathy is a form of inherited kidney disease which is endemic in Cyprus and is caused by a mutation in the gene CFHR5. It is thought to affect up to 1:6000 Cypriots but has not been reported in anybody who is not of Cypriot descent. Presentation Sometimes the disease is associated with visible blood in the urine, usually at the time of respiratory or other infections and this is thought to result from stimulation of the immune system leading to damage in the kidneys. Diagnosis The diagnosis can be confirmed on a blood sample using a genetic test. CFHR5 nephropathy usually presents with microscopic amounts of blood in the urine, detectable on a routine urine dipstick test. Biopsy findings A kidney biopsy in patients with CFHR5 nephropathy classically shows deposition of complement C3 in the kidney, without any detectable immunoglobulins there. This is evidence that the disease is caused by a problem with alternative complement pa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CFHR5
Complement factor H-related protein 5 is a protein that in humans is encoded by the ''CFHR5'' gene. Function CFHR5 is structurally related to complement factor H which plays an important role in the regulation of a branch of the innate immune system called the alternative complement pathway. Like complement factor H, CFHR5 is able to bind to complement C3. Clinical Significance A mutation in CHFR5 was found in patients with the disease CFHR5 nephropathy, which is a common cause of renal disease in Cyprus. The mutated form of the protein found in patients with this disease has impaired ability to bind to complement C3, suggesting that CFHR5 is important in protecting the kidneys from attack by the complement system The complement system, also known as complement cascade, is a part of the immune system that enhances (complements) the ability of antibodies and phagocytic cells to clear microbes and damaged cells from an organism, promote inflammation, and at .... References Ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Test
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urine Dipstick
A urine test strip or dipstick is a basic diagnostic tool used to determine pathological changes in a patient's urine in standard urinalysis. A standard urine test strip may comprise up to 10 different chemical pads or reagents which react (change color) when immersed in, and then removed from, a urine sample. The test can often be read in as little as 60 to 120 seconds after dipping, although certain tests require longer. Routine testing of the urine with multiparameter strips is the first step in the diagnosis of a wide range of diseases. The analysis includes testing for the presence of proteins, glucose, ketones, haemoglobin, bilirubin, urobilinogen, acetone, nitrite and leucocytes as well as testing of pH and specific gravity or to test for infection by different pathogens. The test strips consist of a ribbon made of plastic or paper of about 5 millimetre wide, plastic strips have pads impregnated with chemicals that react with the compounds present in urine producing a chara ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Complement Component 3
Complement component 3, often simply called C3, is a protein of the immune system. It plays a central role in the complement system and contributes to innate immunity. In humans it is encoded on chromosome 19 by a gene called ''C3''. Function C3 plays a central role in the activation of the complement system. Its activation is required for both classical and alternative complement activation pathways. People with C3 deficiency are susceptible to bacterial infection. One form of C3-convertase, also known as C4b2a, is formed by a heterodimer of activated forms of C4 and C2. It catalyzes the proteolytic cleavage of C3 into C3a and C3b, generated during activation through the classical pathway as well as the lectin pathway. C3a is an anaphylotoxin and the precursor of some cytokines such as ASP, and C3b serves as an opsonizing agent. Factor I can cleave C3b into C3c and C3d, the latter of which plays a role in enhancing B cell responses. In the alternative complement pathway, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Immunoglobulins
An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein used by the immune system to identify and neutralize foreign objects such as pathogenic bacteria and viruses. The antibody recognizes a unique molecule of the pathogen, called an antigen. Each tip of the "Y" of an antibody contains a paratope (analogous to a lock) that is specific for one particular epitope (analogous to a key) on an antigen, allowing these two structures to bind together with precision. Using this binding mechanism, an antibody can ''tag'' a microbe or an infected cell for attack by other parts of the immune system, or can neutralize it directly (for example, by blocking a part of a virus that is essential for its invasion). To allow the immune system to recognize millions of different antigens, the antigen-binding sites at both tips of the antibody come in an equally wide variety. In contrast, the remainder of the antibody is relatively constant. It only occurs in a few varian ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alternative Complement Pathway
The alternative pathway is a type of cascade reaction of the complement system and is a component of the innate immune system, a natural defense against infections. The alternative pathway is one of three complement pathways that opsonize and kill pathogens. The pathway is triggered when the C3b protein directly binds a microbe. It can also be triggered by foreign materials and damaged tissues. Cascade This change in shape allows the binding of plasma protein Factor B, which allows Factor D to cleave Factor B into Ba and Bb. Bb remains bound to C3(H2O) to form C3(H2O)Bb. This complex is also known as a fluid-phase C3-convertase. This convertase, the alternative pathway C3-convertase, although only produced in small amounts, can cleave multiple C3 proteins into C3a and C3b. The complex is believed to be unstable until it binds properdin, a serum protein. The addition of properdin forms the complex C3bBbP, a stable compound which can bind an additional C3b to form alternativ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Complement System
The complement system, also known as complement cascade, is a part of the immune system that enhances (complements) the ability of antibodies and phagocytic cells to clear microbes and damaged cells from an organism, promote inflammation, and attack the pathogen's cell membrane. It is part of the innate immune system, which is not adaptable and does not change during an individual's lifetime. The complement system can, however, be recruited and brought into action by antibodies generated by the adaptive immune system. The complement system consists of a number of small proteins that are synthesized by the liver, and circulate in the blood as inactive precursors. When stimulated by one of several triggers, proteases in the system cleave specific proteins to release cytokines and initiate an amplifying cascade of further cleavages. The end result of this ''complement activation'' or ''complement fixation'' cascade is stimulation of phagocytes to clear foreign and damaged material ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mesangiocapillary Glomerulonephritis
Membranoproliferative glomerulonephritis (MPGN) is a type of glomerulonephritis caused by deposits in the kidney glomerular mesangium and basement membrane ( GBM) thickening, activating complement and damaging the glomeruli. MPGN accounts for approximately 4% of primary renal causes of nephrotic syndrome in children and 7% in adults. It should not be confused with membranous glomerulonephritis, a condition in which the basement membrane is thickened, but the mesangium is not. Type There are three types of MPGN, but this classification is becoming obsolete as the causes of this pattern are becoming understood. Type I Type I, the most common by far, is caused by immune complexes depositing in the kidney. It is characterised by subendothelial and mesangial immune deposits. It is believed to be associated with the classical complement pathway. Type II Also called recently as ‘C3 nephropathy’ The preferred name is "dense deposit disease." Most cases of dense deposit disease ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Membranoproliferative Glomerulonephritis
Membranoproliferative glomerulonephritis (MPGN) is a type of glomerulonephritis caused by deposits in the kidney glomerular mesangium and basement membrane ( GBM) thickening, activating complement and damaging the glomeruli. MPGN accounts for approximately 4% of primary renal causes of nephrotic syndrome in children and 7% in adults. It should not be confused with membranous glomerulonephritis, a condition in which the basement membrane is thickened, but the mesangium is not. Type There are three types of MPGN, but this classification is becoming obsolete as the causes of this pattern are becoming understood. Type I Type I, the most common by far, is caused by immune complexes depositing in the kidney. It is characterised by subendothelial and mesangial immune deposits. It is believed to be associated with the classical complement pathway. Type II Also called recently as ‘C3 nephropathy’ The preferred name is "dense deposit disease." Most cases of dense deposit disease d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mesangial
The glomerulus (plural glomeruli) is a network of small blood vessels (capillaries) known as a ''tuft'', located at the beginning of a nephron in the kidney. Each of the two kidneys contains about one million nephrons. The tuft is structurally supported by the mesangium (the space between the blood vessels), composed of intraglomerular mesangial cells. The blood is filtered across the capillary walls of this tuft through the glomerular filtration barrier, which yields its filtrate of water and soluble substances to a cup-like sac known as Bowman's capsule. The filtrate then enters the renal tubule of the nephron. The glomerulus receives its blood supply from an afferent arteriole of the renal arterial circulation. Unlike most capillary beds, the glomerular capillaries exit into efferent arterioles rather than venules. The resistance of the efferent arterioles causes sufficient hydrostatic pressure within the glomerulus to provide the force for ultrafiltration. The glomerulus an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glomerular Basement Membrane
The glomerular basement membrane of the kidney is the basal lamina layer of the glomerulus. The glomerular endothelial cells, the glomerular basement membrane, and the filtration slits between the podocytes perform the filtration function of the glomerulus, separating the blood in the capillaries from the filtrate that forms in Bowman's capsule. The glomerular basement membrane is a fusion of the endothelial cell and podocyte basal laminas, and is the main site of restriction of water flow. Glomerular basement membrane is secreted and maintained by podocyte cells. Layers The glomular basement membrane contains three layers: The glomerular membrane consists of mesangial cells, modified pericytes that in other parts of the body separate capillaries from each other. The podocytes adjoining them have filtration slits of diameter 25 nm that are formed by the pseudopodia arising from them. The filtration slits are covered by a diaphragm that includes the transmembrane protein n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Dialysis
Kidney dialysis (from Greek , , 'dissolution'; from , , 'through', and , , 'loosening or splitting') is the process of removing excess water, solutes, and toxins from the blood in people whose kidneys can no longer perform these functions naturally. This is referred to as renal replacement therapy. The first successful dialysis was performed in 1943. Dialysis may need to be initiated when there is a sudden rapid loss of kidney function, known as acute kidney injury (previously called acute renal failure), or when a gradual decline in kidney function, chronic kidney disease, reaches stage 5. Stage 5 chronic renal failure is reached when the glomerular filtration rate is 10–15% of normal, creatinine clearance is less than 10 mL per minute and uremia is present. Dialysis is used as a temporary measure in either acute kidney injury or in those awaiting kidney transplant and as a permanent measure in those for whom a transplant is not indicated or not possible.Pendse S, Singh A, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
